esv3648935
- Organism: Homo sapiens
- Study:estd216 (Kasak et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:82,299
- Description:PLEASE NOTE: The calls represented in this region now have equivalents in the study Clinical Structural Variants (nstd102). Please use the preferred nstd102 variant region accession for this variant; you can find it at top right under "Links to Other Resources" or in the mapping file provided here.
- Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 336 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3648935 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 12,826,368 | 12,908,666 |
| esv3648935 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 12,807,016 | 12,889,314 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| essv16463259 | duplication | SNP array | Probe signal intensity | not provided | ClinVar | SCV000191843 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16463259 | Remapped | Perfect | NC_000020.11:g.(12 826368_?)_(?_12908 666)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 12,826,368 | 12,908,666 |
| essv16463259 | Submitted genomic | NC_000020.10:g.(12 807016_?)_(?_12889 314)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 12,807,016 | 12,889,314 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|
| essv16463259 | GRCh37: NC_000020.10:g.(12807016_?)_(?_12889314)dup | duplication | not provided | ClinVar | SCV000191843 |